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精神医学中的预测性和诊断性基因检测。

Predictive and diagnostic genetic testing in psychiatry.

机构信息

School of Psychiatry, Prince of Wales Hospital, University of New South Wales, Randwick, Sydney, NSW 2031, Australia.

出版信息

Psychiatr Clin North Am. 2010 Mar;33(1):225-43. doi: 10.1016/j.psc.2009.10.001.

Abstract

The recent advent of commercially available genetic tests for the diagnosis of several mental illnesses has led to intense controversy amongst the psychiatric research community. In this article the authors review these developments, and contrast these with the growing evidence from genome-wide association studies that highly heritable psychiatric conditions such as schizophrenia are due to the contributions and interaction of multiple allelic variants, each of small effect size. There is also evidence for the contribution of some highly penetrant rare de novo copy number variants, though the lack of disease specificity for these is of concern. This article outlines the prerequisites for predictive and diagnostic genetic tests, such as clinical validity and utility, and reviews the opportunity that genetic tests for mental illnesses present. As the scientific discourse on genetic tests for complex disorders is not limited to psychiatry, the authors outline current thoughts on the significance of genome-wide association studies across health, and the phenomenon of direct-to-consumer tests in medicine. The attitudes and understanding of patients, families, and clinicians about the future (currently hypothetical) scenario of psychiatric genetic tests are discussed, as is the potential for such testing to increase, rather than diminish stigma. Finally, recommendations on the future development and availability of genetic tests in psychiatry are provided.

摘要

最近,一些商业化的基因检测方法可用于诊断多种精神疾病,这在精神医学研究领域引发了激烈的争论。本文作者回顾了这些进展,并将其与全基因组关联研究的不断增加的证据进行了对比,这些证据表明,高度遗传性的精神疾病,如精神分裂症,是由多个等位基因变异的贡献和相互作用引起的,每个变异的效应都很小。也有证据表明一些高度外显的罕见新生拷贝数变异也会导致疾病,但这些变异缺乏疾病特异性令人担忧。本文概述了预测性和诊断性基因检测的前提条件,如临床有效性和实用性,并回顾了精神疾病基因检测带来的机会。由于关于复杂疾病基因检测的科学讨论不仅限于精神病学,作者还概述了全基因组关联研究在健康方面的意义,以及直接面向消费者的医学检测现象。本文还讨论了患者、家属和临床医生对未来(目前假设的)精神疾病遗传检测情景的态度和理解,以及这种检测是否有可能增加而不是减少耻辱感。最后,本文提供了关于未来精神医学中基因检测的发展和可用性的建议。

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